Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Skint4'

546509

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

112072016-112168076 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 112158084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 449 (I449F)

Ref Sequence

ENSEMBL: ENSMUSP00000102176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069769] [ENSMUST00000106564] [ENSMUST00000106565] [ENSMUST00000106566]

AlphaFold

A7TZF3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069769
AA Change: I441F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: I441F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106564
AA Change: I441F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: I441F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106565
AA Change: I441F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: I441F

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106566
AA Change: I449F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: I449F

Domain	Start	End	E-Value	Type
IG	41	148	7.24e-10	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256		probably null	Het
9030624J02Rik	T	C	7: 118,773,092	S290P	probably damaging	Het
9130011E15Rik	A	G	19: 45,965,249	I195T	probably damaging	Het
Adamts1	T	A	16: 85,802,746		probably benign	Het
Aff4	A	G	11: 53,408,409	K979E	probably damaging	Het
Aftph	A	T	11: 20,692,498	M845K	probably damaging	Het
Akt2	T	C	7: 27,637,012		probably null	Het
Aldh1a7	A	T	19: 20,708,178	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,999,379	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271	E59G	possibly damaging	Het
Armc8	C	T	9: 99,483,965		probably null	Het
Atp2b1	C	T	10: 98,987,310	T244I	probably damaging	Het
Btaf1	C	A	19: 37,004,469	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,848,205	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,590,588	M105K	probably benign	Het
Ccna1	T	C	3: 55,046,039	E381G	possibly damaging	Het
Cd2ap	A	T	17: 42,798,599	L623Q	probably damaging	Het
Cdkl3	A	G	11: 52,027,215	E415G	probably benign	Het
Chd5	C	A	4: 152,360,941	L430I	possibly damaging	Het
Clspn	G	A	4: 126,580,982	E975K	possibly damaging	Het
Cobl	C	A	11: 12,254,177	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,192,538	R1037L	probably damaging	Het
Derl1	A	G	15: 57,879,047		probably null	Het
Dhrs9	T	G	2: 69,393,176	N89K	probably benign	Het
Erich1	A	G	8: 14,064,330	I60T	probably benign	Het
Fam126b	T	A	1: 58,535,537	M282L	probably benign	Het
Fam155a	G	A	8: 9,770,589	P144S	possibly damaging	Het
Fam184a	A	T	10: 53,694,814	S408T	possibly damaging	Het
Fcgr4	T	A	1: 171,020,088	M85K	probably benign	Het
Foxj3	A	G	4: 119,619,300	E259G	probably damaging	Het
Galnt11	T	C	5: 25,258,813	I361T	probably damaging	Het
Gck	A	G	11: 5,901,747	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,446,145	V98F	probably damaging	Het
Gm13089	A	T	4: 143,697,328	I297N	probably damaging	Het
Gm884	T	A	11: 103,615,812		probably benign	Het
Gramd1a	A	G	7: 31,132,756		probably null	Het
Herc3	A	T	6: 58,876,855	M629L	probably benign	Het
Hist2h2ab	C	T	3: 96,219,988	Q25*	probably null	Het
Hoxc12	G	A	15: 102,938,360	G229D	probably damaging	Het
Itga9	T	C	9: 118,698,365	L528P	probably benign	Het
Krt39	A	C	11: 99,521,236	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337	I312T	probably benign	Het
Mllt11	A	G	3: 95,220,433	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,590,090	N29K	possibly damaging	Het
Mug1	A	G	6: 121,873,644	T700A	probably benign	Het
Myl1	T	C	1: 66,930,236	N79S	probably damaging	Het
Myo18b	G	A	5: 112,723,904	Q2104*	probably null	Het
Ndufs2	T	C	1: 171,238,308	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723	N280S	probably benign	Het
Nwd2	A	T	5: 63,804,915	N614I	probably damaging	Het
Olfr794	G	A	10: 129,571,072	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,598,252	K849N	possibly damaging	Het
Pcnx2	T	C	8: 125,785,302	T1422A	probably damaging	Het
Plce1	A	G	19: 38,739,357	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,415,170	T149A	probably damaging	Het
Ppl	A	G	16: 5,087,502	V1643A	probably benign	Het
Prrx1	T	A	1: 163,248,338	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628		probably null	Het
Ptpn20	A	G	14: 33,614,435	*44W	probably null	Het
Qars	T	A	9: 108,514,777	V83E	probably damaging	Het
Rbm33	T	C	5: 28,394,498	M956T	unknown	Het
Sash1	C	A	10: 8,730,083	E848*	probably null	Het
Scai	T	A	2: 39,121,135	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,438,418		probably benign	Het
Sgo2b	T	A	8: 63,926,834	H988L	probably benign	Het
Sh2b2	G	A	5: 136,218,885	T604I	probably benign	Het
Slc30a2	A	G	4: 134,347,342	I88V	possibly damaging	Het
Smug1	A	G	15: 103,155,942	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258	E100G	probably damaging	Het
Teddm2	T	C	1: 153,850,574	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536		probably benign	Het
Trpm2	T	C	10: 77,912,592	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdfy3	G	A	5: 101,907,518	T1562I	probably damaging	Het
Ybey	T	C	10: 76,468,363	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387	Q308L	probably benign	Het

Other mutations in Skint4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Skint4	APN	4	112120010	missense	possibly damaging	0.86
IGL01654:Skint4	APN	4	112120057	missense	probably damaging	0.99
IGL02040:Skint4	APN	4	112146482	splice site	probably benign
IGL02328:Skint4	APN	4	112120058	missense	possibly damaging	0.92
IGL02811:Skint4	APN	4	112087003	missense	possibly damaging	0.86
IGL02965:Skint4	APN	4	112136021	missense	probably benign	0.01
IGL03039:Skint4	APN	4	112124650	missense	probably benign	0.20
IGL03060:Skint4	APN	4	112118235	missense	probably benign	0.33
IGL03075:Skint4	APN	4	112087042	missense	probably damaging	1.00
IGL03352:Skint4	APN	4	112165686	missense	possibly damaging	0.96
PIT4378001:Skint4	UTSW	4	112087035	missense	probably benign	0.01
R0483:Skint4	UTSW	4	112117939	splice site	probably benign
R1175:Skint4	UTSW	4	112124596	missense	probably benign	0.14
R1446:Skint4	UTSW	4	112118114	missense	probably benign	0.11
R1641:Skint4	UTSW	4	112136043	missense	possibly damaging	0.93
R1983:Skint4	UTSW	4	112146492	missense	probably benign	0.00
R2168:Skint4	UTSW	4	112086986	critical splice acceptor site	probably null
R2272:Skint4	UTSW	4	112119868	missense	probably benign	0.01
R2287:Skint4	UTSW	4	112118205	missense	possibly damaging	0.70
R3801:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R3802:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R3804:Skint4	UTSW	4	112118181	missense	probably damaging	0.98
R4009:Skint4	UTSW	4	112120109	missense	possibly damaging	0.70
R4050:Skint4	UTSW	4	112124614	missense	probably benign	0.01
R4564:Skint4	UTSW	4	112119869	missense	probably damaging	0.99
R4581:Skint4	UTSW	4	112087042	missense	probably damaging	1.00
R4587:Skint4	UTSW	4	112087024	missense	probably damaging	0.99
R4674:Skint4	UTSW	4	112118233	missense	probably damaging	1.00
R4723:Skint4	UTSW	4	112118236	missense	possibly damaging	0.70
R4753:Skint4	UTSW	4	112146531	missense	probably benign	0.00
R4775:Skint4	UTSW	4	112136064	missense	probably damaging	0.97
R4832:Skint4	UTSW	4	112143766	missense	possibly damaging	0.49
R5299:Skint4	UTSW	4	112136006	missense	possibly damaging	0.59
R6118:Skint4	UTSW	4	112119822	splice site	probably null
R6433:Skint4	UTSW	4	112146510	missense	probably benign	0.00
R6616:Skint4	UTSW	4	112118230	missense	possibly damaging	0.70
R6698:Skint4	UTSW	4	112119899	missense	probably damaging	1.00
R6752:Skint4	UTSW	4	112119863	missense	possibly damaging	0.89
R7102:Skint4	UTSW	4	112118101	missense	probably damaging	1.00
R7602:Skint4	UTSW	4	112118271	missense	possibly damaging	0.50
R8027:Skint4	UTSW	4	112157985	critical splice acceptor site	probably null
R8038:Skint4	UTSW	4	112119806	intron	probably benign
R8147:Skint4	UTSW	4	112136021	missense	probably benign	0.06
R8375:Skint4	UTSW	4	112117976	missense	probably damaging	0.98
R8682:Skint4	UTSW	4	112136040	missense	possibly damaging	0.86
R8695:Skint4	UTSW	4	112118067	missense	probably damaging	1.00
R9068:Skint4	UTSW	4	112165735	missense	possibly damaging	0.93
R9361:Skint4	UTSW	4	112143824	missense	probably damaging	0.99
R9516:Skint4	UTSW	4	112158039	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GAATCAATCCTCCTGCCTCAG -3'
(R):5'- ACTTGAGGTAGTAATTCAAGCAGG -3'

Sequencing Primer
(F):5'- cctgcctcagcattctaaat -3'
(R):5'- AGCAGGATAAAACTACAATTTGACC -3'

Posted On

2019-05-13